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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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POLR2J2
RNA polymerase II subunit J2
Chromosome 7 · 7q22.1
NCBI Gene: 246721Ensembl: ENSG00000228049.8HGNC: HGNC:23208UniProt: Q9GZM3
14PubMed Papers
13Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-directed RNA polymerase activitytranscription by RNA polymerase IIRNA polymerase II, core complexDNA-templated transcriptiondiverticular diseasediabetes mellitushemorrhoidintestinal disease
✦AI Summary

POLR2J2 encodes the RPB11 subunit of RNA polymerase II, a core component of the basal transcription machinery responsible for synthesizing mRNA precursors and functional non-coding RNAs 1. As part of the mobile elements within Pol II's central cleft, POLR2J2 contributes to the DNA-dependent RNA polymerase activity essential for transcription by RNA polymerase II. POLR2J2 is one of four human POLR2J family members located on chromosome 7, with alternative splicing generating at least 14 distinct RPB11 isoforms 1. Disease relevance includes Huntington's disease, where miR-34a-5p directly targets POLR2J2, suggesting dysregulation of transcriptional machinery may contribute to pathogenesis 2. POLR2J2 also exhibits race-specific transcriptional differences in colon cancer patients, representing part of a five-gene signature associated with disparities between Black and white patients across all disease stages 3. Additionally, POLR2J2 was identified in copy number variations in thyroid-like nasopharyngeal papillary adenocarcinoma 4. These findings indicate POLR2J2 dysfunction may contribute to both neurodegenerative and neoplastic disease pathogenesis through alterations in transcriptional regulation.

Sources cited
1
POLR2J2 encodes RPB11 subunit; part of four-gene family with alternative splicing generating 14+ isoforms
PMID: 15586814
2
miR-34a-5p directly targets POLR2J2 in Huntington's disease pathogenesis
PMID: 37013480
3
POLR2J2 exhibits race-specific transcriptional differences in colon cancer across all disease stages
PMID: 39580376
4
POLR2J2 located in copy number variations in thyroid-like nasopharyngeal papillary adenocarcinoma
PMID: 35759937
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ13
diverticular diseaseOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
hemorrhoidOpen Targets
0.05Suggestive
intestinal diseaseOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
abdominal abscessOpen Targets
0.03Suggestive
circadian rhythmOpen Targets
0.03Suggestive
insomniaOpen Targets
0.03Suggestive
cervical cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
urinary bladder carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLR2KProtein interaction100%POLR2EProtein interaction100%POLR2HProtein interaction100%SUPT5HProtein interaction100%POLR2AProtein interaction100%SUPT4H1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
29%
Ovary
29%
Liver
26%
Brain
9%
Heart
0%
Gene Interaction Network
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POLR2J2POLR2KPOLR2EPOLR2HSUPT5HPOLR2ASUPT4H1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9GZM3
View on AlphaFold ↗
RankingsWhere POLR2J2 stands among ~20K protein-coding genes
  • #15,964of 20,598
    Most Researched14
Genes detectedPOLR2J2
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
miR-34a-5p as molecular hub of pathomechanisms in Huntington's disease.
PMID: 37013480
Mol Med · 2023
1.00
2
Genetic profile identification and clinicopathologic characteristics analysis of the thyroid-like low-grade nasopharyngeal papillary adenocarcinoma.
PMID: 35759937
Pathol Res Pract · 2022
0.83
3
Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.
PMID: 37222571
Mol Cell Biol · 2023
0.67
4
Stage-Specific Tumoral Gene Expression Profiles of Black and White Patients with Colon Cancer.
PMID: 39580376
Ann Surg Oncol · 2025
0.50
5
Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.
PMID: 33137890
Int J Mol Sci · 2020
0.33